Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion

Preferred Label : Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion;

NCIt synonyms : Epithelioid Hemangioendothelioma with WWTR1::CAMTA1 Gene Fusion;

NCIt definition : Epithelioid hemangioendothelioma characterized by a t(1;3)(p36;q23-q25) translocation, resulting in a WWTR1-CAMTA1 gene fusion. This translocation and associated gene fusion occur in more than 90% of epithelioid hemangioendotheliomas.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1643194;

Details

Origin ID

C177552;

UMLS CUI

C5447846;

Disease may have findings
- Painful Mass [NCIt concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
Has cytogenetic abnormalities
- t(1;3)(p36;q23-25) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Borderline Lesion [NCIt concept]
- High Grade Lesion [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Endothelial Cell [NCIt concept]
- Malignant Epithelioid Endothelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Endothelial Cell [NCIt concept]
disease_has_finding
- Hyalinized Stroma Formation [NCIt concept]
- Low Grade Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Myxoid Stroma Formation [NCIt concept]
- Solitary Mass [NCIt concept]
- Vascular Channel Formation [NCIt concept]
disease_has_molecular_abnormality
- WWTR1-CAMTA1 Fusion Protein Expression [NCIt concept]
disease_has_normal_cell_origin
- Endothelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Blood Vessel Endothelium [NCIt concept]
- Vascular Endothelium [NCIt concept]
disease_has_primary_anatomic_site
- Blood Vessel [NCIt concept]
- Vascular System [NCIt concept]
disease_mapped_to_gene
- WWTR1/CAMTA1 Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- WWTR1/CAMTA1 Fusion Gene [NCIt concept]

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